Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AKAP17A_chrX_1586604_1607520	1596431	C C	CTCCTCCT others(181): Show CTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGCGGAATC CTCCTCTTCCTTCTCCATCACTCCCACCCTCCTAGTGAGGTGGATTCCTC CTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTC CTCCTTCTCCATCCCTCCCACCCTCCTAGTGAGGTGGAT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19074.hp1 NA19067.hp1 NA19074.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0054 a0001c0005t0001g0055	2	74	0.0270	188	c.911 others(203): Show c.911+941_911+942insCGGAATCCTCCTCTTCCTTCTCCATCACTC CCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCA CCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCATCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCC TAGTGAGG	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132732719	T T	TCTCTGCG others(181): Show TCTCTGCGTGCTGGTGTCTGACATGCACCGTGTGAAGCTCTCTGAGTGCT GGTGTCTGATACGTACCGTGTGAAGCTCTCTGCATGCTGGTGTCTGATAT GCACCGTGTGAAGCACTGCGCGTCCTGGCGTCTGATACGCACCGTGTGAA GCTCTCTGCGTCCTGGTGTCTGATACGCACCGTGAAGCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02630.hp2 others(6): Show HG01109.hp1 HG01243.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03453.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0010 a0003c0007 a0007c0013 a0001c0010 a0003c0007 a0007c0013	a0001c0010t0002 a0003c0007t0002 a0007c0013t0005 a0001c0010t0002 a0003c0007t0002 a0007c0013t0005	a0001c0010t0002g0189 a0001c0010t0002g0190 a0001c0010t0002g0272 others(5): Show a0001c0010t0002g0189 a0001c0010t0002g0190 a0001c0010t0002g0272 a0003c0007t0002g0011 a0003c0007t0002g0273 a0003c0007t0002g0274 a0007c0013t0005g0015 a0007c0013t0005g0016	9	348	0.0259	188	c.189 others(207): Show c.1891+1665_1891+1666insCGCTTCACGGTGCGTATCAGACACCA GGACGCAGAGAGCTTCACACGGTGCGTATCAGACGCCAGGACGCGCAGTG CTTCACACGGTGCATATCAGACACCAGCATGCAGAGAGCTTCACACGGTA CGTATCAGACACCAGCACTCAGAGAGCTTCACACGGTGCATGTCAGACAC CAGCACGCAGAG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANO7_chr2_241183677_241230976	241218129	C C	CGGGGGGC others(181): Show CGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGCG TAGGGGCGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGG GCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGCGCGCAGGG GCGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0047 a0001c0021t0004g0047	1	389	0.0026	188	c.217 others(205): Show c.2179-105_2179-104insGCAGCGGGGGCGCGCAGGGGCGGGGCGG GGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGGCAGCGGGGGCGCGC AGGGGCGGGGCGGGGGGCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGCA GCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGGG CAGCGGGGGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP39_chr8_144524179_144690846	144562509	C C	CACTCCAG others(181): Show CACTCCAGTGGTTTCCATCGGACTCCAGTGGTTTCCATCGGACTCCAGTG GTTTCCATCGGACCCCAGTCGTTTCCATCACACTCCAGTGGTTTCCATCG GACTCACTCCAGTGGTTTCCATCGGACTCACTCCAGTGGTTTCCATCACA CTCCAGTGGTTTCCATCGGACTCCAGTGGTTTCCATCGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02622.hp2 others(7): Show HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0001t0021 a0001c0018t0001 a0001c0001t0001 a0001c0001t0021 a0001c0018t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 others(7): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0021g0057 a0001c0018t0001g0230	10	222	0.0450	188	c.513 others(205): Show c.513-6867_513-6866insCCGATGGAAACCACTGGAGTCCGATGGA AACCACTGGAGTGTGATGGAAACCACTGGAGTGAGTCCGATGGAAACCAC TGGAGTGAGTCCGATGGAAACCACTGGAGTGTGATGGAAACGACTGGGGT CCGATGGAAACCACTGGAGTCCGATGGAAACCACTGGAGTCCGATGGAAA CCACTGGAGT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(181): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCTCCCG CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTC CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	72	0.0139	188	c.102 others(205): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCGCTC CCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(181): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTC CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01943.hp1 HG01258.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0152 a0001c0001t0001g0155	2	73	0.0274	188	c.102 others(205): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(181): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTC CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	72	0.0139	188	c.102 others(205): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049918	A A	AGGGGAAC others(181): Show AGGGGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGG GAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	287	0.0035	188	c.48 others(199): Show c.4812_*4813insCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATG TGTTCCCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCCCCC TCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTT CCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2185		chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198311	G G	GGAGGGGG others(181): Show GGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGACGGGGAGGG AAGGGGGAGGGAAGAGGAGGGGGAGGGGGATGGGAGGGGAGGGGGAGGGG AGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGGGG AGGGGGAGGGGGAGGGGAGATGGGAGGGGAGGGGAGGGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	147	0.0068	188	c.311 others(205): Show c.311-1323_311-1322insACCCTCCCCTCCCCTCCCATCTCCCCTC CCCCTCCCCCTCCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCT CTCCTCCCCCTCCCCTCCCCCTCCCCTCCCATCCCCCTCCCCCTCCTCTT CCCTCCCCCTTCCCTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCTC CTTCCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198318	A A	AGAGGAGG others(181): Show AGAGGAGGGGAGGGGGACGGGAGGGGAGGGGGAGGGGGAGGGGGGACGGG AGGGGAGGGGGAGGGGAGGGGGACGGGAGGGGGACGGGGAGGGGACGGGG GAGGGGACGGGGAGGGGACAGGGAGGGGAGGGGGAGGGGAGGGGACGGGG AGGGGACGGGAGGGGAGGGGGACGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	212	0.0047	188	c.311 others(205): Show c.311-1330_311-1329insCTCCCCCTCCCCTCCCGTCCCCCTCCCC TCCCGTCCCCTCCCCGTCCCCTCCCCTCCCCCTCCCCTCCCTGTCCCCTC CCCGTCCCCTCCCCCGTCCCCTCCCCGTCCCCCTCCCGTCCCCCTCCCCT CCCCCTCCCCTCCCGTCCCCCCTCCCCCTCCCCCTCCCCTCCCGTCCCCC TCCCCTCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198349	A A	AGGGGGAG others(181): Show AGGGGGAGGGGAGGGGGACGGGAGGGGGACGGGGAGGGGACGGGGAGGGG ACGGGGAGGGGACGGGGAGGGGACGGGGAGGGGACAGGGAGGGGAGGGGA GGGGGAGGGGACGGGGAGGGGACGGGAGGGGAGGGGGACGGGAGGGGAGG GGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	209	0.0048	188	c.311 others(205): Show c.311-1361_311-1360insCTCCCCCTCCCCTCCCATCTCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCGTCCCCCTCCCCTCCCGTCCCCTCCCCG TCCCCTCCCCCTCCCCTCCCCTCCCTGTCCCCTCCCCGTCCCCTCCCCGT CCCCTCCCCGTCCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCGTCCCCCT CCCCTCCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATP10A_chr15_25673712_25868327	25757945	A A	ACTCATTC others(181): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0257 a0002c0002t0001g0257	1	286	0.0035	188	c.655 others(207): Show c.655-21805_655-21804insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758197	A A	ACTCATTC others(181): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0051 a0051	a0051c0041 a0051c0041	a0051c0041t0001 a0051c0041t0001	a0051c0041t0001g0171 a0051c0041t0001g0171	1	277	0.0036	188	c.655 others(207): Show c.655-22057_655-22056insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758225	A A	ACTCATTC others(181): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0221 a0004c0004t0001g0221	1	275	0.0036	188	c.655 others(207): Show c.655-22085_655-22084insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758281	A A	ACTCATTC others(181): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp1 HG03209.hp2 HG03225.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0016 a0002c0002 a0007c0016	a0002c0002t0001 a0007c0016t0001 a0002c0002t0001 a0007c0016t0001	a0002c0002t0001g0244 a0007c0016t0001g0215 a0002c0002t0001g0244 a0007c0016t0001g0215	2	279	0.0072	188	c.655 others(207): Show c.655-22141_655-22140insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112715448	T T	TCCCCACA others(181): Show TCCCCACACCTGGCCGATCCCACCACACCTGGCCCACCTCCCCACACCTG GCCCACCTCCCCACACCTGGCCCACCTCCCCACACCTGGCCCACTTCCCC ACACCTGGCCCATCCCCCCACACCTGGCCCATCTCCCACACCTGGCCCAC CTCCCCACACCTGGCCCATCCCCCACACCTGGCCCATCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0216 a0001c0040t0001g0216	1	53	0.0189	188	c.39+ others(205): Show c.39+25007_39+25008insGATCCCACCACACCTGGCCCACCTCCCC ACACCTGGCCCACCTCCCCACACCTGGCCCACCTCCCCACACCTGGCCCA CTTCCCCACACCTGGCCCATCCCCCCACACCTGGCCCATCTCCCACACCT GGCCCACCTCCCCACACCTGGCCCATCCCCCACACCTGGCCCATCCCCCC ACACCTGGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79357774	T T	TGTGTGAG others(181): Show TGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTG TGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTC TGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGA GGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG03486.hp2 others(1): Show HG02055.hp1 HG02615.hp2 HG03486.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0004 a0002c0005t0001 a0002c0005t0004	a0002c0005t0001g0184 a0002c0005t0001g0191 a0002c0005t0001g0244 others(1): Show a0002c0005t0001g0184 a0002c0005t0001g0191 a0002c0005t0001g0244 a0002c0005t0004g0173	4	286	0.0140	188	c.290 others(207): Show c.2904-1571_2904-1570insGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAG GGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGAT GCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTG TCCGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83022378	G G	GCCCACCT others(181): Show GCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCC CACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0035 a0003c0021t0035	a0003c0021t0035g0186 a0003c0021t0035g0186	1	259	0.0039	188	c.298 others(205): Show c.298-7860_298-7859insGCGGGGACAGTGCTAAGCTCATGTGAGT TCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCA CGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGG TGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023158	G G	GAGCTTAG others(181): Show GAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAG CTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTT AGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATTAGCTTAGC ACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA20129.hp2 HG01978.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0003 a0001c0001t0002 a0002c0005t0003	a0001c0001t0002g0155 a0002c0005t0003g0156 a0001c0001t0002g0155 a0002c0005t0003g0156	2	228	0.0088	188	c.298 others(205): Show c.298-8640_298-8639insAACGTGAGTTCACGCTGGTGCAGGTGGG CCGGGGACAGTGCTAAGCTAATGTGAGTTCACGCTGGTGCAGGTGGGCCG GGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGG ACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACA GTGCTAAGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023287	G G	GTGAACTC others(181): Show GTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTG AACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAAC TCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCA CGTTAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 NA20300.hp1 HG01891.hp2 HG02451.hp2 NA20300.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0011 a0001c0011t0012 a0001c0011t0011 a0001c0011t0012	a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143	3	257	0.0117	188	c.298 others(205): Show c.298-8769_298-8768insTGCTGGTGCAGGTGGGGCGGGGACAGTG CTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTA AGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGC TCATGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCA TGTGAGTTCA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83047659	C C	CTTAGGTC others(181): Show CTTAGGTCTATAATAAATCCTACCAAAGAATAAGAAACTTAGGTCTATAA TAAATCCTACCAAAGAATAAGAAACTTAGGTCTATAATAAATCCCTACCA AAGAATAAGAAATTTAGGTCTATAATAAATCCCTACCAAAGAATAAGAAA CTTAGGTCTATAATCAATCCTTATCAAAGAACAAGAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(66): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01515.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02293.hp2 HG02300.hp1 HG02886.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18953.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18980.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19062.hp1 NA19062.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0012 a0002c0009 others(2): Show a0001c0002 a0001c0012 a0002c0009 a0002c0027 a0005c0028	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0016 a0001c0002t0019 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0012t0001 a0001c0012t0002 a0002c0009t0003 a0002c0009t0013 a0002c0009t0024 a0002c0027t0003 a0005c0028t0002	a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0117 others(66): Show a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0117 a0001c0002t0001g0130 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0006g0071 a0001c0002t0006g0072 a0001c0002t0006g0108 a0001c0002t0006g0128 a0001c0002t0006g0129 a0001c0002t0008g0070 a0001c0002t0008g0096 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0099 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0008g0109 a0001c0002t0008g0112 a0001c0002t0008g0124 a0001c0002t0010g0103 a0001c0002t0010g0133 a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0002t0019g0116 a0001c0002t0025g0095 a0001c0002t0028g0121 a0001c0002t0029g0074 a0001c0012t0001g0069 a0001c0012t0001g0081 a0001c0012t0001g0101 a0001c0012t0001g0125 a0001c0012t0002g0080 a0002c0009t0003g0079 a0002c0009t0003g0092 a0002c0009t0003g0093 a0002c0009t0003g0100 a0002c0009t0003g0123 a0002c0009t0013g0067 a0002c0009t0013g0088 a0002c0009t0013g0118 a0002c0009t0013g0120 a0002c0009t0024g0119 a0002c0027t0003g0114 a0005c0028t0002g0107	69	261	0.2644	188	c.232 others(203): Show c.232+811_232+812insATTTCTTGTTCTTTGATAAGGATTGATTAT AGACCTAAGTTTCTTATTCTTTGGTAGGGATTTATTATAGACCTAAATTT CTTATTCTTTGGTAGGGATTTATTATAGACCTAAGTTTCTTATTCTTTGG TAGGATTTATTATAGACCTAAGTTTCTTATTCTTTGGTAGGATTTATTAT AGACCTAA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(181): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0041 a0006c0007t0001g0041	1	144	0.0069	188	c.784 others(203): Show c.784-521_784-520insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375020	G G	GAGGGAGG others(181): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	83	0.0120	188	c.784 others(203): Show c.784-434_784-433insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGAGGAAGGGAGGGAGGAGG AAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375125	A A	AAGGGAGG others(181): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0150 a0007c0011t0001g0150	1	150	0.0067	188	c.784 others(203): Show c.784-295_784-294insAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(181): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGG AGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18956.hp1 NA19062.hp1 others(1): Show NA18946.hp2 NA18956.hp1 NA19062.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0205 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0205 a0001c0002t0001g0208	4	154	0.0260	188	c.490 others(207): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BLM_chr15_90712346_90821166	90819211	T T	TTCCACGG others(181): Show TTCCACGGCCCCACAGAGGGTTCAGTGACGCCTGGGAAGGTGCCGGGTTC CACGGCCCCACAGAGGGTTCGGGGACGCCTGGGAAGGTGCCGGGTTCCAC GGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGATCCACGGC CCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	231	0.0043	188	c.39 others(199): Show c.3932_*3933insTCCACGGCCCCACAGAGGGTTCAGTGACGCCTGG GAAGGTGCCGGGTTCCACGGCCCCACAGAGGGTTCGGGGACGCCTGGGAA GGTGCCGGGTTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGT GCCGGGATCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCC GGGA	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding		3046		chr15	TogoVar
BLM_chr15_90712346_90821166	90819211	T T	TTCCACGG others(181): Show TTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGTTC CACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGTTCCAC GGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGATCCACGGC CCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00621.hp1 others(34): Show HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00741.hp1 HG01192.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02165.hp2 HG02280.hp1 HG02622.hp2 HG02895.hp1 HG02970.hp2 HG03486.hp2 HG03540.hp1 NA18747.hp2 NA18944.hp1 NA18955.hp2 NA18957.hp1 NA18971.hp1 NA18979.hp1 NA18986.hp2 NA18992.hp1 NA18999.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0007 a0002c0004t0001 a0001c0002t0001 a0001c0002t0007 a0002c0004t0001	a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0012 others(33): Show a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0050 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0160 a0001c0002t0001g0174 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0213 a0001c0002t0001g0238 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0007g0096 a0002c0004t0001g0065 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0136 a0002c0004t0001g0140 a0002c0004t0001g0214 a0002c0004t0001g0258	37	267	0.1386	188	c.39 others(199): Show c.3932_*3933insTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGG GAAGGTGCCGGGTTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAA GGTGCCGGGTTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGT GCCGGGATCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCC GGGA	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding		3046		chr15	TogoVar
BLM_chr15_90712346_90821166	90819264	G G	GGCCCCAC others(181): Show GGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGTTCCACGGC CCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGATCCACGGCCCC ACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGATCCACGGCCCCACA GAGGGTTCAGTGACGCCTGGGAAGGTGCCGGGTTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03209.hp1 HG02717.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0158 a0001c0002t0001g0027 a0001c0002t0001g0158	2	277	0.0072	188	c.39 others(199): Show c.3985_*3986insGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGT GCCGGGTTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCC GGGATCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGG ATCCACGGCCCCACAGAGGGTTCAGTGACGCCTGGGAAGGTGCCGGGTTC CACA	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding		3099		chr15	TogoVar
BOC_chr3_113206557_113292459	113236264	G G	GTATATAT others(181): Show GTATATATACCCATGGGTATATATATATATATATATATATATATATACCC ATGGGTATATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATATACCCATGGGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0042 a0001c0005t0008g0042	1	375	0.0027	188	c.-81 others(207): Show c.-81-13457_-81-13456insATATATACCCATGGGTATATATATAT ATATATATATATATATATACCCATGGGTATATATATATATATATATATAT ATATATACCCATGGGTATATATATATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATATATATATACCCATGGGTAT ATATATATATAT	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(181): Show ATATATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	328	0.0030	188	c.-81 others(207): Show c.-81-13410_-81-13409insTACCCATGGGTATATATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATATATA CCCATGGGTATATATATATATATATATATATATATATACCCATGGGTATA TATATATATATATATATATATATATACCCATGGGTATATATATATATATA TATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(181): Show ATATATATATATATATATATATATATATATATACCCATGGGTATATATAT ATATATATATATATATATACCCATGGGTATATATATATATATATATATAT ATATATATATACCCATGGGTATATATATATATATATATATATACACCCAT GGGTATATATATATATATATATATATATACCCATGGGTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	328	0.0030	188	c.-81 others(207): Show c.-81-13410_-81-13409insTATACCCATGGGTATATATATATATA TATATATATATATACCCATGGGTATATATATATATATATATATATATATA TATATACCCATGGGTATATATATATATATATATATATACACCCATGGGTA TATATATATATATATATATATATACCCATGGGTGTATATATATATATATA TATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRD1_chr22_49768283_49832873	49802137	G G	GGAGACCA others(181): Show GGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGA GACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGAC CAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGACCAA TGCCTCCACTCTCTTCCATTCCCCAACATCGCGGGGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02896.hp1 others(2): Show HG02145.hp2 HG02572.hp1 HG02896.hp1 HG03688.hp1 NA19001.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0005c0013t0001 a0001c0001t0001 a0005c0013t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0047 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0053 a0005c0013t0001g0208	5	244	0.0205	188	c.152 others(207): Show c.1524+1879_1524+2066dupGGCCCCCGCGATGTTGGGGAATGGAA GAGAGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAG AGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAGAGT GGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAGAGTGGA GGCATTGGTCTC	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar
BRD1_chr22_49768283_49832873	49802184	C C	CGAGACCA others(181): Show CGAGACCAATGCCTCCACTCTCTTCCATTCCCCAACATCGCGGGGGCCGA GACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGAC CAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGACCAA TGCCTCCACTCTCTTCCTTTCCCCAACATCGCAGGGGCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0225 a0002c0003t0003g0225	1	256	0.0039	188	c.152 others(207): Show c.1524+2019_1524+2020insCGCCCCTGCGATGTTGGGGAAAGGAA GAGAGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAG AGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAGAGT GGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAATGGAAGAGAGTGGA GGCATTGGTCTC	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar
BRD1_chr22_49768283_49832873	49802318	C C	TGGGGGCC others(181): Show TGGGGGCCGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGG GGGCCGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGG CCGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCG AGACCAATGCCTCCACTCTCTTCCATTCCCCAACATCGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	256	0.0039	188	c.152 others(207): Show c.1524+1886_1524+1887insCGATGTTGGGGAATGGAAGAGAGTGG AGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAGAGTGGAGG CATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAGAGTGGAGGCAT TGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAGAGTGGAGGCATTGG TCTCGGCCCCCA	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar
BRD1_chr22_49768283_49832873	49802524	C C	CCTCCACT others(181): Show CCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGACCAATGCCT CCACTCTCTTCTTTTCCCCAACATCGCGGGGGCCGAGACCAATGCCTCCA CTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGACCAATGCCTCCACTC TCTTCCATTCCCCAACATCGCGGGGGCCGAGACCAATGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03942.hp1 HG03710.hp1 HG03942.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0011 a0001c0006t0001 a0001c0006t0011	a0001c0006t0001g0050 a0001c0006t0011g0239 a0001c0006t0001g0050 a0001c0006t0011g0239	2	256	0.0078	188	c.152 others(207): Show c.1524+1679_1524+1680insACATTGGTCTCGGCCCCCGCGATGTT GGGGAATGGAAGAGAGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGG GAAAGGAAGAGAGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAA AAGAAGAGAGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGG AAGAGAGTGGAG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar
BRD1_chr22_49768283_49832873	49802673	C C	CTCTTCCA others(181): Show CTCTTCCATTCCCCAACATCGCGGGGGCCGAGACCAATGCCTCCACTCTC TTCCTTTCCCCAACATCGCGGGGGCCGAGACCAATGCCTCCACTCTCTTC CTTTCCCCAACATCGCGGGGGCCGAGACCAATGCCTCCACTCTCTTCCTT TCCCCAACATCGCGGGGGCCGAGACCAATGCCTCCACTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(17): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG01074.hp1 HG01106.hp2 HG01261.hp2 HG01891.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG03239.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp2 HG04228.hp1 HG06807.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0017 a0002c0003 a0002c0017	a0002c0003t0003 a0002c0017t0003 a0002c0003t0003 a0002c0017t0003	a0002c0003t0003g0005 a0002c0003t0003g0220 a0002c0003t0003g0222 others(15): Show a0002c0003t0003g0005 a0002c0003t0003g0220 a0002c0003t0003g0222 a0002c0003t0003g0223 a0002c0003t0003g0224 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0232 a0002c0003t0003g0233 a0002c0003t0003g0234 a0002c0003t0003g0235 a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0238 a0002c0017t0003g0229	20	251	0.0797	188	c.152 others(207): Show c.1524+1530_1524+1531insCAGTGGAGGCATTGGTCTCGGCCCCC GCGATGTTGGGGAAAGGAAGAGAGTGGAGGCATTGGTCTCGGCCCCCGCG ATGTTGGGGAAAGGAAGAGAGTGGAGGCATTGGTCTCGGCCCCCGCGATG TTGGGGAAAGGAAGAGAGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTG GGGAATGGAAGA	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar
BRSK2_chr11_1384934_1467689	1429523	G G	GCTGTGCC others(181): Show GCTGTGCCCAGCAGTGAGTGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0041 a0001c0001t0045g0041	1	279	0.0036	188	c.92- others(203): Show c.92-6500_92-6499insTGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430635	G G	GTCTGGTC others(181): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0067 a0004c0012t0004g0067	1	348	0.0029	188	c.92- others(203): Show c.92-5405_92-5404insTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432243	G G	GGGTCTGG others(181): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0005 a0002c0002t0010g0005	2	335	0.0060	188	c.92- others(203): Show c.92-3630_92-3629insCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD9_chr6_38163451_38644929	38374306	T T	TATATATA others(181): Show TATATATATATATATATATATATATATACGTATATATATATATATATATA TATACGTATATATATATATATATATATATACGTATATATATATATATATA TATACGTATATATATATATATATATATATATACGTATATATATATATATA TATATATATATACGTATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0039 a0001c0001t0026g0039	1	220	0.0045	188	c.115 others(209): Show c.1155-29214_1155-29213insGTATATATATATATATATATATAT ACGTATATATATATATATATATATATATATACGTATATATATATATATAT ATATATATACGTATATATATATATATATATATACGTATATATATATATAT ATATATATACGTATATATATATATATATATATATACGTATATATATATAT ATATATATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTRC_chr10_101349165_101562313	101366864	A A	ATATATTT others(181): Show ATATATTTATGTATATTAATATATATTAATATATATTTATATATATTTAT ATATAAATATATATTTATATATATTAATATATATTTATATATATATTTAT ATATAAATATATATTTATATATATTAATATATATTAATATATATTTTTAT ATATTTATATATTTATATATATTAATATATATATTTATC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01978.hp2 HG01257.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0044 a0001c0001t0002g0045	2	264	0.0076	188	c.48+ others(205): Show c.48+12639_48+12640insATTTATGTATATTAATATATATTAATAT ATATTTATATATATTTATATATAAATATATATTTATATATATTAATATAT ATTTATATATATATTTATATATAAATATATATTTATATATATTAATATAT ATTAATATATATTTTTATATATTTATATATTTATATATATTAATATATAT ATTTATCTAT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
C13orf46_chr13_113948705_113979076	113974274	T T	TTGGGGCG others(181): Show TTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01361.hp2 others(9): Show HG00642.hp1 HG01081.hp1 HG01361.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02148.hp2 HG02273.hp2 HG03669.hp2 HG03927.hp2 NA18945.hp2 NA18952.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0063 a0001c0001t0069 others(1): Show a0001c0001t0002 a0001c0001t0063 a0001c0001t0069 a0005c0006t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0024 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0209 a0001c0001t0063g0208 a0001c0001t0069g0205 a0005c0006t0002g0189	12	285	0.0421	188	c.-27 others(197): Show c.-278_-277insGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAAC CCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCG CCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCC CA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		199		chr13	TogoVar
C16orf74_chr16_85702517_85756096	85719750	C C	CCCACAGC others(181): Show CCCACAGCACACACAAAGGCCCTGAGGCAGGAACACAGGAGCCACAGGCC ACAGCACACACAAAGGCCCTGAGGCAGGAACATAGGGGCCACAGGCCACA GTACACGCAAAGGCCCTGAGGCAGGAACAGAGGGGCCACAGGCCACAGCA CACACAAAGGCCCTGAGGCAGGAACAGAGGGGCCACAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	408	0.0025	188	c.29- others(203): Show c.29-9444_29-9443insCCTGTGGCCCCTCTGTTCCTGCCTCAGGGC CTTTGTGTGTGCTGTGGCCTGTGGCCCCTCTGTTCCTGCCTCAGGGCCTT TGCGTGTACTGTGGCCTGTGGCCCCTATGTTCCTGCCTCAGGGCCTTTGT GTGTGCTGTGGCCTGTGGCTCCTGTGTTCCTGCCTCAGGGCCTTTGTGTG TGCTGTGG	C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	2/3			chr16	TogoVar
C20orf96_chr20_265863_295750	278930	C C	CGGAGGGA others(181): Show CGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGA GGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGG GCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02523.hp2 HG03688.hp1 others(2): Show HG01258.hp2 HG02523.hp2 HG03688.hp1 HG03688.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0007 a0002c0002 a0002c0006 a0002c0007	a0002c0002t0001 a0002c0006t0001 a0002c0007t0001 a0002c0002t0001 a0002c0006t0001 a0002c0007t0001	a0002c0002t0001g0097 a0002c0002t0001g0287 a0002c0006t0001g0165 others(2): Show a0002c0002t0001g0097 a0002c0002t0001g0287 a0002c0006t0001g0165 a0002c0006t0001g0179 a0002c0007t0001g0137	5	326	0.0153	188	c.465 others(203): Show c.465+241_465+242insCTCCCTCCCTCCGTCCCGCCCTCCCGCCCT CCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCC CTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278930	C C	CGGAGGGA others(181): Show CGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGA GGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGG GCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGCGGGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0114 a0002c0006t0001g0114	1	322	0.0031	188	c.465 others(203): Show c.465+241_465+242insCTCCCGCCCTCCGTCCCGCCCTCCCGCCCT CCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCC CTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278980	G G	GGCGGGAG others(181): Show GGCGGGAGGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGGGCGGGACA GAGGGAGGGAGGGAGGGAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGA GGGAGGGCGGGGACAGAGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGAGGGAGGGGAGGGAGGGACGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	407	0.0025	188	c.465 others(203): Show c.465+191_465+192insTCCTCCCTCCGTCCCTCCCTCCCCTCCCTC CCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCTGTCCC CGCCCTCCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCCCT CCCTCCCTCTGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCTCC CCTCCCGC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279014	C C	CGGAGGGA others(181): Show CGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGACG GAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGA CGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGACG GAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03669.hp2 NA19066.hp1 HG02602.hp2 HG03669.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0132 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0132	3	401	0.0075	188	c.465 others(203): Show c.465+157_465+158insCACCCTCCGTCCCTCCCTCCCTCCCGCCCT CCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCC GTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCT CCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCC CTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C7_chr5_40904497_40989643	40982317	C C	CATTTTTT others(181): Show CATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0092 a0003c0003t0003g0092	1	378	0.0026	188	c.75 others(197): Show c.750_*751insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	18/18	751	INFO_REALIGN_3_PRIME	chr5	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(181): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTC TCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCT CTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0018 a0003c0015t0001g0018	1	90	0.0111	188	c.573 others(207): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(181): Show TTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTT TCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCCT CTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	90	0.0111	188	c.573 others(207): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG AAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar

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